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Arq Bras Oftalmol. 2015 Mar-Apr;78(2):120-2. doi: 10.5935/0004-2749.20150031.

Macular dystrophy associated with Kjellin's syndrome: a case report.

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Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.


Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin's syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

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